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Faculty Member

Andrew Paterson MB ChB, BSc (Hons)

Email Address(es)
Office Phone
(416) 813-6994
Office Address
Program in Genetics & Genomic Biology, The Hospital for Sick Children Research Institute, PGCRL Rm 12.9835, 686 Bay Street, Toronto, Ontario M5G 0A4 Canada
Sickkids, Flickr
Biostatistics Division
Epidemiology Division
SGS Status
Full Member
Appointment Status
Status Only

Research Interests

  • Genetic bases for Mendelian and complex diseases
  • Genetic linkage analysis in Mendelian and complex diseases
  • Allelic association analysis in Mendelian and complex diseases
  • Quantitative trait locus (QTL) mapping in experimental animals
  • Genetics of type 1 diabetes
  • Genetics of complications of type 1 diabetes

Other Affiliations

Senior Scientist, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto

Associate Prof, Dept Psychaitry, UoT

Associate Prof, Institute of Medical Sciences, UoT

Primary Teaching Responsibilities

  • CHL 7001H ‘Statistical Methods for … Genetic Linkage’
  • MSC 2010S ‘Advanced Concepts in Human Genetic Disease’

Honours & Awards

  • Canada Research Chair in Genetics of Complex Diseases (2002-2012)

Current Research Projects

  • 2000-2007 – Genetics of type 1 diabetes in Newfoundland’
  • 2003-2005 – Functional Genomics of Type 1 Diabetes
  • 2000-2011 – Genetic studies of complications in Type 1 diabetes
  • 2005-2010 – Genetic studies of mammographic density
  • 2005-2010 – Association of lipid gene haplotypes with breast density and cancer
  • 2012-2017 – Genetics of decline of renal function in Type 1 diabetes
  • 2012-2013 – Genetics of lipids in Type 1 diabetes

Representative Publications

87. Sun L, Craiu RV, Paterson AD, Bull SB (2006) Stratified False Discovery Control for Large-scale Hypothesis Testing with Application to Genome-Wide Association Studies. Genet Epi 30, 519-530. PMID: 16800000

89. The Autism Genome Project Consortium (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 39, 319-28. PMID: 17322880

98. Al-Kateb H, et al., Paterson AD and the DCCT/EDIC research group (2008). Multiple SOD1/SFRS15 variants are associated with the development and progression of diabetic nephropathy: The DCCT/EDIC Genetics Study. Diabetes 57, 218-228. PMID: 17914031

107. Grant SFA, et al., Paterson AD, et al., (2009) Follow up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes 58:290-5. PMID: 18840781

108. Diamandis M, Paterson AD, et al., (2009) Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood 113, 1543-6.

112. Wallis RH, Wang KS, Marandi L, Hsieh E, Ning T, Chao GYC, Sarmiento J, Paterson AD, Poussier P (2009) Type 1 Diabetes in the BB rat: a polygenic disease. Diabetes 58: 1007-17. PMID: 19168599

116. Pezzolesi MG, Poznik GD, Mychaleckyj JC, Paterson AD, et al., (2009) Genome-wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes. Diabetes 58: 1403-10. PMID: 19252134

119. Yoo YJ, Bull SB, Paterson AD, Waggott D, DCCT/EDIC Research Group, Sun L (2009) Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies. Genetic Epidemiology 34, 107-18. PMID: 19626703

124. Paterson AD, et al., (2009) Genome-wide association identifies the ABO Blood Group as a Major Locus Associated with Serum Levels of Soluble E-Selectin. ATVB 29:1958-67. PMID: 19729612

125. Paterson AD, et al., (2010) A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. Diabetes 59: 539-549. PMID: 19875614

126. Paterson AD, et al., (2010) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood, 115: 1264-6. PMID: 20007542

129. Liu X-Q, et al., P, Paterson AD, Pei Y (2010) Genetic Variation of DKK3 may modify Renal Disease Severity in ADPKD. JASN 21:1510-20. PMID: 20616171

130. Pinto D, …, Paterson AD, et al., (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368-72. PMID: 20531469

133. Böger CA,… Paterson AD… (2011) CUBN is a gene locus for Albuminuria. JASN 22: 555-570. PMID: 2135506

134. Mrkonjic M, … Paterson AD, Bapat B (2010) Specific Variants in the MLH1 Gene Region May Drive DNA Methylation, Loss of Protein Expression, and MSI-H Colorectal Cancer. Plos One 5:e13314. PMID: 20967208

138. Lindström … Paterson AD, et al., (2011) Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nature Genetics 43 185-7. PMID: 21278746

145. Melka MG,… Paterson AD, et al., (2012) Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. JCEM, 97(1):E145-50.

149. van Koolwijk LME, …., Paterson AD, et al., (2012) Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma. PLos Genetics 8(5):e1002611.

150. Stevens KN …, Paterson AD et al., (2012) Identification of a novel locus for percent mammographic density at 12q24. Human Molecular Genetics 21(14):3299-305.

154. Sandholm N, … Paterson AD et al., (2012) New susceptibility loci associated with kidney disease in type 1 diabetes. PLoS Genetics 8(9) e1002921.

  1. Richard Anney, …. Andrew D. Paterson, et al.,  (2012) Individual common variants exert weak effects on risk for Autism Spectrum Disorders. Human Molecular Genetics 21:4781-92. doi: 10.1093/hmg/dds301
  1. Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, FORGE Canada Consortium, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F (2013) Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly is Caused by a Duplication in RUNX2. Am J Hum Genet 92:252-8
  1. Virginie J.M. Verhoeven, … Andrew D. Paterson, et al., (2013) Genome-wide meta-analyses of multi-ancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics 45:314-8.

158. Crosbie J, Arnold P, Paterson A, Swanson J, Dupuis A, Li X, Shan J, Goodale T, Tam C, Strug LJ, Schachar RJ (2013) Response Inhibition and ADHD Traits: Correlates and Heritability in a Community Sample. J Abnorm Child Psychol 41:497-507.

  1. Nalpathamkalam T, Derkach A, Paterson AD, Merico D (2014) Genetic Analysis Workshop 18 Single-Nucleotide Variant Prioritization Based on Protein Impact, Sequence Conservation and Gene Annotation. BMC Proceedings. 8(Suppl 1):S11. doi:10.1186/1753-6561-8-S1-S11
  1. Derkach A, Lawless JF, Merico D, Paterson AD, Sun L (2014) Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data. BMC Proceedings. 8(Suppl 1):S9. doi:10.1186/1753-6561-8-S1-S9
  1. Levy NS, Vardi M, Blum S, Miller-Lotan R, Afinbinder Y, Cleary PA, Paterson AD, Bharaj B, Snell-Bergeon JK, Rewers MJ, Lache O, Levy AP (2013) An Enzyme Linked Immunosorbent Assay (ELISA) for the Determination of the Human Haptoglobin Phenotype. Clinical Chemistry 51:1615-22.
  1. Dwight Stambolian,… Andrew D. Paterson, et al.,  (2013) Meta-Analysis of Genome-wide Association Studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. Human Molecular Genetics 22:2754-64. doi:10.1093/hmg/ddt116. Mar 27.
  1. Rydz N, Swystun L, Notley C, Paterson AD, Riches J, Boonyarat B, Montgomery RR, James PD, Lillicrap D (2013) The C-type lectin receptor CLEC4M binds, internalizes and clears von Willebrand factor and contributes to variation in plasma von Willebrand factor levels. Blood 121:5228-37.
  1. Xu L, Craiu RV, Derkach A, Paterson AD, Sun L (2014) Using a Bayesian Latent Variable Approach to Detect Pleiotropy in the Genetic Analysis Workshop 18 Data. BMC Proceedings. 8(Suppl 1):S77. doi:10.1186/1753-6561-8-S1-S77
  1. Hu P, Paterson AD (2014) Dynamic pathway analysis of genes associated with blood pressure using whole genome sequence data. BMC Proceedings. 8(Suppl 1):S106. doi:10.1186/1753-6561-8-S1-S106
  1. Eric Duku, Peter Szatmari, Tracy Vaillancourt, Stelios Georgiades, Ann Thompson, Xiao-Qing Liu, Andrew D. Paterson, Terry Bennett (2013) Measurement equivalence of the autism symptom phenotype in children and youth. Journal of Child Psychology and Psychiatry doi:10.1111/jcpp.12103
  1. Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF (2013) Mammographic Density and Breast Cancer: A Comparison of Related and Unrelated Controls in the Breast Cancer Family Registry. Breast Cancer Research 15:R43
  1. Ching-Yu Cheng, … Andrew D Paterson, et al.,  (2013) Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Am J Hum Genet 93, 264-277.
  1. Orchard T,Sun W, Cleary P, Genuth S; Lachin J, McGee P, Paterson A, Raskin P, Anbinder Y, Levy A (2013) Haptoglobin Genotype and the Rate of Renal Function Decline in the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Study. Diabetes 62:3218-23.
  1. Cross-Disorder Group of the Psychiatric Genomics Consortium, ….  Paterson AD, et al., (2013) Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 45:984-94.
  1. Mirea L, Yanga J, Paterson AD, Shah V, Bassil KL, Lee SK, Shah PS and the Canadian Neonatal Network (2013) Relationship of Mode of Conception and Sex concordance with Mortality/Morbidity in Preterm Twins. Twin Research and Human Genetics 16:985-93.
  1. Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X. Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C. Cattran, Carmen Avila-Casado, Andrew D. Paterson, Patrick Nitschke, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J. Allen, Weibin Zhou, Rannar Airik, , Edgar A. Otto, Moumita Barua, M. Hashim Al-Hamed, Jameela A. Kari, Detlef Bockenhauer, Robert Kleta, Sherif El Desoky, Duygu O. Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C. Wiggins, Murim Choi, Richard P. Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, Martin Pollak, Catherine F. Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt (2013) ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. JCI. 123:5179-89. Nov 25. pii: 69000. doi: 10.1172/JCI69000.
  1. Anath C. Lionel, … Andrew D. Paterson, et al., (2014) Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for Autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Human Molecular Genetics 23:2752-68.
  1. Miao F, Chen Z, Genuth S, Paterson AD, Zhang L, Wu X , Li SM, Cleary P, Riggs AD, Harlan DM, Lorenzi G, Kolterman O, Sun W, Lachin JM, Natarajan R and the DCCT/EDIC Research Group (2014) Evaluating the role of epigenetic histone modifications in the metabolic memory of type 1 diabetes. Diabetes 63:1748-62
  1. Niina Sandholm, Carol Forsblom, Ville-Petteri Mäkinen, Amy Jayne McKnight, Anne-May Österholm, Bing He, Valma Harjutsalo, Raija Lithovius, Daniel Gordin, Maija Parkkonen, Markku Saraheimo, Lena M Thorn, Nina Tolonen, Johan Wadén, Jaakko Tuomilehto, Maria Lajer, Emma Ahlqvist, Anna Möllsten, M. Loredana Marcovecchio, Jason Cooper, David Dunger, Andrew D Paterson, Gianpaolo Zerbini, Leif Groop, The SUMMIT Consortium, Lise Tarnow, Alexander P Maxwell, Karl Tryggvason, Per-Henrik Groop on behalf of the FinnDiane Study (2014) Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes. Diabetologia 57:1143-53
  1. Gary Chao, Robert H. Wallis, Leili Marandi, Terri Ning, Janice Sarmiento, Andrew D. Paterson, Philippe Poussier (2014) Iddm30 Controls Pancreatic Expression of Ccl11 (Eotaxin) and the Th1/Th2 Balance within the Insulitic Lesions. Journal of Immunology 192:3645-53
  1. Paterson AD (2014) Drinking from the Holy Grail of human genetics: analysis of whole-genome sequencing from the Genetic Analysis Workshop 18. Genetic Epidemiology 38:S1–S4.
  1. Dalila Pinto, …Andrew D. Paterson, et al., (2014) Convergence of genes and Cellular Pathways dysregulated in Autism Spectrum Disorders. Am J Hum Genet, 94:677-94.
  1. Arking DE, ….Paterson AD, et al.,  (2014) Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics. 46(8):826-36. Jun 22. doi: 10.1038/ng.3014.
  1. Eny KM, Lutgers HL, Maynard J, Klein BEK, Lee KE, Atzmon G, Monnier VM, van Vliet–Ostaptchouk JV, Graaff R, van der Harst P, Snieder H, van der Klauw MM, Sell DR, Hosseini SM, Cleary PA, Braffett BH, Orchard TJ, Lyons TJ, Howard K, Klein R, Crandall JP, Barzilai N, Milman S, Ben-Avraham D, LifeLines Cohort Study Group, DCCT/EDIC Research Group, Wolffenbuttel BHR, Paterson AD (2014) GWAS identifies an NAT2 acetylator status tag single nucleotide polymorphism to be a major locus for skin fluorescence. Diabetologia 57:1623-34. DOI 10.1007/s00125-014-3286-9
  1. Sarmiento J, Wallis RH, Ning T, Marandi L, Chao GY, Paterson AD, Poussier P (2014) Genetic dissection of Iddm26 in the spontaneously diabetic BBDP rat. Genes and Immunity. 15(6):378-91. Jun 12. doi: 10.1038/gene.2014.29
  1. Nieminen TT, Marie-Françoise O’Donohue, Yunpeng Wu, Hannes Lohi, Stephen W. Scherer, Andrew D. Paterson, Pekka Ellonen, Wael M. Abdel-Rahman, Satu Valo, Jukka-Pekka Mecklin, Heikki J. Järvinen, Pierre-Emmanuel Gleizes, Päivi Peltomäki (2014) Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology 147: 595-598.e5 doi: 10.1053/j.gastro.2014.06.009.
  1. Claire L. Simpson, … Andrew D. Paterson et al., (2014) Genome-wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci. Plos One Sep 18;9(9):e107110
  1. Lindström S, Thompson DJ, Paterson AD, Li J, Gierach GL, Scott C, Stone J, Douglas JA, dos-Santos-Silva I, Fernandez-Navarro P, Verghase J, Smith P, Brown J, Luben R, Wareham NJ, Loos RJ, Heit JA, Pankratz VS, Norman A, Goode EL, Cunningham JM, deAndrade M, Vierkant RA, Czene K, Fasching PA, Baglietto L, Southey MC, Giles GG, Shah KP, Chan HP, Helvie MA, Beck AH, Knoblauch NW, Hazra A, Hunter DJ, Kraft P, Pollan M, Figueroa JD, Couch FJ, Hopper JL, Hall P, Easton DF, Boyd NF, Vachon CM, Tamimi RM for the Markers of Density (MODE) consortium (2014) Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. Nature Communications Oct 24;5:5303. doi: 10.1038/ncomms6303
  1. Ajoy Vincent, Nicole Forster, Jason T Maynes, Tara A Paton, Gail Billingsley, Nicole M Roslin, Arfan Ali, Joanne Sutherland, Tom Wright, Carol A. Westall, Andrew D. Paterson, Christian Marshall, FORGE Canada consortium, Elise Heon (2014) OTX2 mutations cause Autosomal Dominant Pattern Dystrophy of the Retinal Pigment Epithelium. Journal of Medical Genetics 51:797-805 doi: 10.1136/jmedgenet-2014-102620
  1. Alison Merikangas, Ricardo Segurado, Eleisa Heron, Richard Anney, Andrew D. Paterson, Edwin Cook, Dalila Pinto, Steven Scherer, Peter Szatmari, Michael Gill, Aiden Corvin, Louise Gallagher (2014) The phenotypic manifestations of rare genic CNVs in Autism Spectrum Disorder. Molecular Psychiatry. Nov 25. doi: 10.1038/mp.2014.150.
  1. Qing Li, …. Andrew D. Paterson, et al., (2014) Genome-Wide Association Study for Refractive Astigmatism Reveals Genetic Co-determination with Spherical Equivalent Refractive Error: The CREAM Consortium. Human Genetics
  1. Kevans D, Turpin W, Madsen K, Meddings J, Shestopaloff K, Xu W, Moreno-Hagelsieb G, Griffiths A, Silverberg MS, Paterson A, Croitoru K, GEM Project (2015) Determinants of Intestinal Permeability in Healthy First-Degree Relatives of Individuals with Crohn’s Disease. Inflammatory Bowel Diseases 21(4):879-87. doi: 10.1097/MIB.0000000000000323.
  1. Lizhen Xu, Radu V. Craiu, Lei Sun, Andrew D. Paterson (2014) Parameter Expanded Algorithms for Bayesian Latent Variable Modeling of Genetic Pleiotropy Data. Journal of Computational and Graphical Statistics DOI: 10.1080/10618600.2014.988337.
  1. Janice Sarmiento, Robert H. Wallis, Terri Ning, Leili Marandi, Gary Chao, André Veillette, Åke Lernmark, Andrew D. Paterson, Philippe Poussier (2015) A Functional Polymorphism of Pptn22 is Associated with Type 1 Diabetes in the BioBreeding Rat. Journal of Immunology 194(2):615-629
  1. Marc Woodbury-Smith, Andrew D. Paterson, Bhooma Thiruvahindrapduram, Anath C. Lionel, Christian R. Marshall, Daniele Merico, Bridget Fernandez, Eric Duku, James S. Sutcliffe, Irene O’Conner, Christina Chrysler, Ann Thompson, Barbara Kellam, Kristiina Tammimies, Suzi Walker, Ryan Yuen, Mohammed Uddin, Jennifer Howe, Morgan Parlier, Kathy Whitten, Peter Szatmari, Veronica Vieland,, Joe Piven, Stephen W. Scherer (2015) Using Extended Pedigrees to Identify Novel Autism Spectrum Disorder (ASD) Candidate Genes. Human Genetics 134:191-201. doi: 10.1007/s00439-014-1513-6.
  1. Hosseini SM, Boright AP, Sun L, Canty AJ, Bull SB, Klein BE, Klein R, the DCCT/EDIC Research Group, Paterson AD (2015) The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy. Human Genetics 134:247-57. doi: 10.1007/s00439-014-1517-2
  1. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Durr A, Brice A, Levy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Scherer SW, Rouleau G, Megarbane A, Isaya G, Delaguem V, Yoon G (2015) PMPCA mutations causes abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 138(Pt 6):1505-17 doi:10.1093/brain/awv057
  1. Gallaugher M, Canty AJ, Paterson AD (in press) Factors associated with heterogeneity in microarray gene expression in peripheral blood mononuclear cells from large pedigrees. BMC Proceedings.
  1. Liu X-Q, Fazio J, Hu PZ, Paterson AD (in press) Identity-by-Descent Mapping of Diastolic Blood Pressure in unrelated Mexican Americans. BMC Proceedings
  1. Eny KM, Orchard TJ, Miller RG, Maynard J, Grant DM, Costacou T, Cleary PA, Braffett BH, DCCT/EDIC Research Group, Paterson AD (in press) Caffeine consumption contributes to skin intrinsic fluorescence in type 1 diabetes. Diabetes Technology and Therapeutics
  1. Soave D, Corvol H, Panjwani N, Gong, J, Li W, Boëlle PY, Durie PR, Paterson AD, Rommens JM, Strug LJ, Sun L (2015) A joint location-scale test improves power to detect associated SNPs, gene sets and pathways. American Journal of Human Genetics 97: 124-138
  1. Gagliano SA, Paterson AD, Weale ME, Knight J (2015) Assessing models for genetic prediction of complex traits: a comparison of visualization and quantitative methods. BMC Genomics 16(1):405.
  1. Klein R, Myers CE, Lee KE, Paterson AD, Cruickshanks KJ, Tsai MY, Gangnon RE, Klein BEK (2015) Oxidized Low-density Lipoprotein and the Incidence of Proliferative Diabetic Retinopathy and Clinically Significant Macular Edema determined from Fundus Photographs. JAMA Ophthalmology. Jul 16. doi: 10.1001/jamaophthalmol.2015.2239
  1. Xu L, Paterson AD, Turpin W, Xu W (2015) Assessment and Selection of Competing Models for Zero-inflated Microbiome Data. Plos One 10(7):e0129606
  1. Julia G Poirier, Laura L. Faye, Apostolos Dimitromanolakis, Andrew D. Paterson, Lei Sun, Shelley B. Bull (in press) Resampling to Address the Winner’s Curse in Genetic Association Analysis of Time to Event. Genetic Epidemiology.
  1. Gregory S Day, Harald Prüss, Susanne M Benseler, Tara A Paton, Andrew D Paterson, Danielle M Andrade (in press) GRIN1 polymorphisms do not effect susceptibility or phenotype in NMDA receptor encephalitis. Neurology, Neuroimmunology & Neuroinflammation